Publications

Polygenic modifiers impact penetrance and expressivity in telomere biology disorders.

Poeschla M, Arora UP, Walne A, et al. Polygenic modifiers impact penetrance and expressivity in telomere biology disorders. The Journal of clinical investigation. 2025. doi:10.1172/JCI191107

The Prolonged Half-Life of the p53 Missense Variant R248Q Promotes Accumulation and Heterotetramer Formation with Wild-Type p53 to Exert the Dominant-Negative Effect.

Klemm N, Schimmer RR, Konrad NK, et al. The Prolonged Half-Life of the p53 Missense Variant R248Q Promotes Accumulation and Heterotetramer Formation with Wild-Type p53 to Exert the Dominant-Negative Effect. Cancer research. 2025;85(11):1978-1996. doi:10.1158/0008-5472.CAN-24-1136

Polygenic Prediction of Peripheral Artery Disease and Major Adverse Limb Events.

Flores AM, Ruan Y, Misra A, et al. Polygenic Prediction of Peripheral Artery Disease and Major Adverse Limb Events. JAMA cardiology. 2025. doi:10.1001/jamacardio.2025.1182

Early Postoperative Minimal Residual Disease Detection with MAESTRO Is Associated with Recurrence and Worse Survival in Patients with Head and Neck Cancer.

Sim ES, Rhoades J, Xiong K, et al. Early Postoperative Minimal Residual Disease Detection with MAESTRO Is Associated with Recurrence and Worse Survival in Patients with Head and Neck Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research. 2025:OF1-OF9. doi:10.1158/1078-0432.CCR-25-0307

Direct Comparison of Alternative Blood-Based Approaches for Early Detection and Diagnosis of HPV-Associated Head and Neck Cancers.

Bryan ME, Aye L, Das D, et al. Direct Comparison of Alternative Blood-Based Approaches for Early Detection and Diagnosis of HPV-Associated Head and Neck Cancers. Clinical cancer research : an official journal of the American Association for Cancer Research. 2025:OF1-OF11. doi:10.1158/1078-0432.CCR-24-2525

Cellular hierarchies of embryonal tumors with multilayered rosettes are shaped by oncogenic microRNAs and receptor-ligand interactions.

Beck A, Gabler-Pamer L, Cruzeiro GAV, et al. Cellular hierarchies of embryonal tumors with multilayered rosettes are shaped by oncogenic microRNAs and receptor-ligand interactions. Nature cancer. 2025. doi:10.1038/s43018-025-00964-9

Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease.

Musunuru K, Grandinette S, Wang X, et al. Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease. The New England journal of medicine. 2025. doi:10.1056/NEJMoa2504747

Measured intrapatient radiomic variability as a predictor of treatment response in multi-metastatic soft tissue sarcoma patients.

Geady C, Bannon JJ, Reza S, et al. Measured intrapatient radiomic variability as a predictor of treatment response in multi-metastatic soft tissue sarcoma patients. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.04.11.25325700

Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice.

Matuszek Żaneta, Arbab M, Kesavan M, et al. Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice. Nature genetics. 2025. doi:10.1038/s41588-025-02172-8

Epstein-Barr Virus Exposure Precedes Crohn's Disease Development.

Nandy A, Petralia F, Porter CK, et al. Epstein-Barr Virus Exposure Precedes Crohn’s Disease Development. Gastroenterology. 2025. doi:10.1053/j.gastro.2025.01.247

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Publications

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